{ "api_version": "1", "request": { "url": "https://clinicaltrialsfind.com/api/v1/search.json?intervention=mutation+carrier+screening", "query": { "intervention": "mutation carrier screening" }, "page_size": 10 }, "pagination": { "page": 1, "page_size": 10, "total_count": 15, "total_pages": 2, "next_page_url": "https://clinicaltrialsfind.com/api/v1/search.json?intervention=mutation+carrier+screening&page=2&page_size=10", "previous_page_url": null }, "source": "remote", "last_synced_at": "2026-09-07T23:15:40.544Z", "attribution": "Data derived from public ClinicalTrials.gov records. The official record at https://clinicaltrials.gov/ remains the source of truth for current availability, contacts, and full study details.", "notes": [ "This endpoint exposes only public summary fields — no participant contact emails, phone numbers, or scraped investigator contact details.", "For contact information and full protocol detail, follow each trial's `official_url` to the ClinicalTrials.gov record.", "This API is a navigational aid. It does not provide medical advice, eligibility determinations, or compensation guarantees." ], "trials": [ { "nct_id": "NCT00354497", "title": "Prostate Cancer Screening and Dietary Heterocyclic Amines in African American Men", "overall_status": "UNKNOWN", "study_type": "INTERVENTIONAL", "phases": [ "PHASE2" ], "conditions": [ "Prostate Cancer" ], "interventions": [ { "name": "physiologic testing", "type": "OTHER" }, { "name": "study of socioeconomic and demographic variables", "type": "OTHER" }, { "name": "evaluation of cancer risk factors", "type": "PROCEDURE" }, { "name": "mutation carrier screening", "type": "PROCEDURE" }, { "name": "study of high risk factors", "type": "PROCEDURE" } ], "intervention_types": [ "OTHER", "PROCEDURE" ], "sponsor": "Lawrence Livermore National Laboratory at University of California", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": "50 Years", "maximum_age": "70 Years", "sex": "MALE", "summary": "50 Years to 70 Years · Male only" }, "enrollment_count": 800, "start_date": "2002-03", "completion_date": null, "has_results": false, "last_update_posted_date": "2013-09-20", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 2, "location_summary": "Livermore, California • Oakland, California", "locations": [ { "city": "Livermore", "state": "California" }, { "city": "Oakland", "state": "California" } ], "official_url": "https://clinicaltrials.gov/study/NCT00354497" }, { "nct_id": "NCT05058846", "title": "Pilot Study of Pancreatic Cancer Screening", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Pancreatic Carcinoma" ], "interventions": [ { "name": "Biospecimen Collection", "type": "PROCEDURE" }, { "name": "Magnetic Resonance Cholangiopancreatography", "type": "PROCEDURE" }, { "name": "Magnetic Resonance Imaging", "type": "PROCEDURE" }, { "name": "Endoscopic ultrasound", "type": "PROCEDURE" }, { "name": "Questionnaires", "type": "OTHER" } ], "intervention_types": [ "PROCEDURE", "OTHER" ], "sponsor": "University of California, San Francisco", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 250, "start_date": "2022-01-20", "completion_date": "2032-01-31", "has_results": false, "last_update_posted_date": "2026-08-11", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 1, "location_summary": "San Francisco, California", "locations": [ { "city": "San Francisco", "state": "California" } ], "official_url": "https://clinicaltrials.gov/study/NCT05058846" }, { "nct_id": "NCT04009148", "title": "Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "BRCA-Mutated Ovarian Carcinoma", "BRIP1 Gene Mutation", "MSH2 A636P", "MLH1 Gene Mutation", "MSH6 Gene Mutation", "PMS2 Gene Mutation", "EPCAM", "RAD51C Gene Mutation" ], "interventions": [ { "name": "CASCADE genetic screening", "type": "OTHER" } ], "intervention_types": [ "OTHER" ], "sponsor": "NYU Langone Health", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": "99 Years", "sex": "ALL", "summary": "18 Years to 99 Years" }, "enrollment_count": 118, "start_date": "2019-03-01", "completion_date": "2027-04-23", "has_results": false, "last_update_posted_date": "2026-05-14", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 1, "location_summary": "New York, New York", "locations": [ { "city": "New York", "state": "New York" } ], "official_url": "https://clinicaltrials.gov/study/NCT04009148" }, { "nct_id": "NCT05677880", "title": "Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "CADASIL" ], "interventions": [ { "name": "Study Procedures", "type": "OTHER" } ], "intervention_types": [ "OTHER" ], "sponsor": "University of Wisconsin, Madison", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 660, "start_date": "2022-06-03", "completion_date": "2027-08", "has_results": false, "last_update_posted_date": "2026-01-15", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 12, "location_summary": "Los Angeles, California • San Francisco, California • Denver, Colorado + 9 more", "locations": [ { "city": "Los Angeles", "state": "California" }, { "city": "San Francisco", "state": "California" }, { "city": "Denver", "state": "Colorado" }, { "city": "Atlanta", "state": "Georgia" }, { "city": "Chicago", "state": "Illinois" } ], "official_url": "https://clinicaltrials.gov/study/NCT05677880" }, { "nct_id": "NCT05564377", "title": "Targeted Therapy Directed by Genetic Testing in Treating Patients With Locally Advanced or Advanced Solid Tumors, The ComboMATCH Screening Trial", "overall_status": "RECRUITING", "study_type": "INTERVENTIONAL", "phases": [ "PHASE2" ], "conditions": [ "Advanced Malignant Solid Neoplasm", "Anatomic Stage III Breast Cancer AJCC v8", "Anatomic Stage IV Breast Cancer AJCC v8", "Locally Advanced Malignant Solid Neoplasm", "Malignant Female Reproductive System Neoplasm", "Metastatic HER2-Negative Breast Carcinoma", "Metastatic Malignant Solid Neoplasm", "Recurrent Endometrial Carcinoma", "Recurrent Fallopian Tube Carcinoma", "Recurrent Malignant Female Reproductive System Neoplasm", "Recurrent Malignant Solid Neoplasm", "Recurrent Ovarian Carcinoma", "Recurrent Primary Peritoneal Carcinoma", "Unresectable HER2-Negative Breast Carcinoma", "Unresectable Malignant Solid Neoplasm" ], "interventions": [ { "name": "Alpelisib", "type": "DRUG" }, { "name": "Binimetinib", "type": "DRUG" }, { "name": "Biopsy Procedure", "type": "PROCEDURE" }, { "name": "Biospecimen Collection", "type": "PROCEDURE" }, { "name": "Bone Marrow Aspiration", "type": "PROCEDURE" }, { "name": "Bone Marrow Biopsy", "type": "PROCEDURE" }, { "name": "Bone Scan", "type": "PROCEDURE" }, { "name": "Computed Tomography", "type": "PROCEDURE" }, { "name": "Echocardiography Test", "type": "PROCEDURE" }, { "name": "Fluorouracil", "type": "DRUG" }, { "name": "Fulvestrant", "type": "DRUG" }, { "name": "Ipatasertib", "type": "DRUG" }, { "name": "Leucovorin", "type": "DRUG" }, { "name": "Magnetic Resonance Imaging", "type": "PROCEDURE" }, { "name": "Multigated Acquisition Scan", "type": "PROCEDURE" }, { "name": "Mutation Carrier Screening", "type": "PROCEDURE" }, { "name": "Neratinib Maleate", "type": "DRUG" }, { "name": "Nilotinib Hydrochloride Monohydrate", "type": "DRUG" }, { "name": "Olaparib", "type": "DRUG" }, { "name": "Oxaliplatin", "type": "DRUG" }, { "name": "Paclitaxel", "type": "DRUG" }, { "name": "Palbociclib", "type": "DRUG" }, { "name": "Panitumumab", "type": "BIOLOGICAL" }, { "name": "Positron Emission Tomography", "type": "PROCEDURE" }, { "name": "Selumetinib Sulfate", "type": "DRUG" }, { "name": "Sotorasib", "type": "DRUG" } ], "intervention_types": [ "DRUG", "PROCEDURE", "BIOLOGICAL" ], "sponsor": "National Cancer Institute (NCI)", "sponsor_class": "NIH", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 2900, "start_date": "2023-04-07", "completion_date": "2030-07-01", "has_results": false, "last_update_posted_date": "2026-09-03", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 478, "location_summary": "Birmingham, Alabama • Mobile, Alabama • Anchorage, Alaska + 354 more", "locations": [ { "city": "Birmingham", "state": "Alabama" }, { "city": "Mobile", "state": "Alabama" }, { "city": "Anchorage", "state": "Alaska" }, { "city": "Goodyear", "state": "Arizona" }, { "city": "Kingman", "state": "Arizona" } ], "official_url": "https://clinicaltrials.gov/study/NCT05564377" }, { "nct_id": "NCT00714701", "title": "Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study)", "overall_status": "COMPLETED", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Early Pancreatic Neoplasia", "Familial Pancreatic Neoplasia" ], "interventions": [], "intervention_types": [], "sponsor": "Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": "100 Years", "sex": "ALL", "summary": "18 Years to 100 Years" }, "enrollment_count": 631, "start_date": "2008-06", "completion_date": "2016-07", "has_results": false, "last_update_posted_date": "2018-09-07", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 1, "location_summary": "Baltimore, Maryland", "locations": [ { "city": "Baltimore", "state": "Maryland" } ], "official_url": "https://clinicaltrials.gov/study/NCT00714701" }, { "nct_id": "NCT04101968", "title": "The GBA Multimodal Study in Parkinson's Disease", "overall_status": "COMPLETED", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Parkinson Disease", "GBA Gene Mutation", "Gaucher Disease" ], "interventions": [ { "name": "PET scan", "type": "DIAGNOSTIC_TEST" }, { "name": "neuroQWERTY", "type": "DIAGNOSTIC_TEST" } ], "intervention_types": [ "DIAGNOSTIC_TEST" ], "sponsor": "Pacific Parkinson's Research Centre", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": "18 Years", "maximum_age": "80 Years", "sex": "ALL", "summary": "18 Years to 80 Years" }, "enrollment_count": 30, "start_date": "2019-05-01", "completion_date": "2026-06-30", "has_results": false, "last_update_posted_date": "2026-09-02", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 2, "location_summary": "Portland, Oregon • Seattle, Washington", "locations": [ { "city": "Portland", "state": "Oregon" }, { "city": "Seattle", "state": "Washington" } ], "official_url": "https://clinicaltrials.gov/study/NCT04101968" }, { "nct_id": "NCT03155620", "title": "Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "INTERVENTIONAL", "phases": [ "PHASE2" ], "conditions": [ "Advanced Malignant Solid Neoplasm", "Ann Arbor Stage III Non-Hodgkin Lymphoma", "Ann Arbor Stage IV Non-Hodgkin Lymphoma", "Histiocytic Sarcoma", "Juvenile Xanthogranuloma", "Langerhans Cell Histiocytosis", "Malignant Glioma", "Recurrent Childhood Rhabdomyosarcoma", "Recurrent Ependymoma", "Recurrent Ewing Sarcoma", "Recurrent Glioma", "Recurrent Hepatoblastoma", "Recurrent Langerhans Cell Histiocytosis", "Recurrent Malignant Germ Cell Tumor", "Recurrent Malignant Solid Neoplasm", "Recurrent Medulloblastoma", "Recurrent Neuroblastoma", "Recurrent Non-Hodgkin Lymphoma", "Recurrent Osteosarcoma", "Recurrent Peripheral Primitive Neuroectodermal Tumor", "Recurrent Primary Central Nervous System Neoplasm", "Recurrent Rhabdoid Tumor", "Recurrent Soft Tissue Sarcoma", "Refractory Ewing Sarcoma", "Refractory Glioma", "Refractory Hepatoblastoma", "Refractory Langerhans Cell Histiocytosis", "Refractory Malignant Germ Cell Tumor", "Refractory Malignant Solid Neoplasm", "Refractory Medulloblastoma", "Refractory Neuroblastoma", "Refractory Non-Hodgkin Lymphoma", "Refractory Osteosarcoma", "Refractory Peripheral Primitive Neuroectodermal Tumor", "Refractory Primary Central Nervous System Neoplasm", "Refractory Rhabdoid Tumor", "Refractory Rhabdomyosarcoma", "Rhabdoid Tumor", "Stage III Osteosarcoma AJCC v7", "Stage III Soft Tissue Sarcoma AJCC v7", "Stage IV Osteosarcoma AJCC v7", "Stage IV Soft Tissue Sarcoma AJCC v7", "Stage IVA Osteosarcoma AJCC v7", "Stage IVB Osteosarcoma AJCC v7", "Wilms Tumor" ], "interventions": [ { "name": "Biopsy Procedure", "type": "PROCEDURE" }, { "name": "Biospecimen Collection", "type": "PROCEDURE" }, { "name": "Bone Marrow Aspiration and Biopsy", "type": "PROCEDURE" }, { "name": "Bone Scan", "type": "PROCEDURE" }, { "name": "Computed Tomography", "type": "PROCEDURE" }, { "name": "Ensartinib", "type": "DRUG" }, { "name": "Erdafitinib", "type": "DRUG" }, { "name": "Ivosidenib", "type": "DRUG" }, { "name": "Laboratory Biomarker Analysis", "type": "OTHER" }, { "name": "Larotrectinib Sulfate", "type": "DRUG" }, { "name": "Magnetic Resonance Imaging", "type": "PROCEDURE" }, { "name": "Mutation Carrier Screening", "type": "PROCEDURE" }, { "name": "Olaparib", "type": "DRUG" }, { "name": "Palbociclib", "type": "DRUG" }, { "name": "Pharmacological Study", "type": "OTHER" }, { "name": "Positron Emission Tomography", "type": "PROCEDURE" }, { "name": "Radionuclide Imaging", "type": "PROCEDURE" }, { "name": "Samotolisib", "type": "DRUG" }, { "name": "Selpercatinib", "type": "DRUG" }, { "name": "Selumetinib Sulfate", "type": "DRUG" }, { "name": "Tazemetostat", "type": "DRUG" }, { "name": "Tipifarnib", "type": "DRUG" }, { "name": "Ulixertinib", "type": "DRUG" }, { "name": "Vemurafenib", "type": "DRUG" }, { "name": "X-Ray Imaging", "type": "PROCEDURE" } ], "intervention_types": [ "PROCEDURE", "DRUG", "OTHER" ], "sponsor": "National Cancer Institute (NCI)", "sponsor_class": "NIH", "healthy_volunteers": false, "eligibility": { "minimum_age": "12 Months", "maximum_age": "21 Years", "sex": "ALL", "summary": "12 Months to 21 Years" }, "enrollment_count": 1377, "start_date": "2017-07-31", "completion_date": "2027-01-06", "has_results": true, "last_update_posted_date": "2026-07-24", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 168, "location_summary": "Birmingham, Alabama • Anchorage, Alaska • Mesa, Arizona + 126 more", "locations": [ { "city": "Birmingham", "state": "Alabama" }, { "city": "Anchorage", "state": "Alaska" }, { "city": "Mesa", "state": "Arizona" }, { "city": "Phoenix", "state": "Arizona" }, { "city": "Tucson", "state": "Arizona" } ], "official_url": "https://clinicaltrials.gov/study/NCT03155620" }, { "nct_id": "NCT02462460", "title": "Rapid Pancreatic and Ovarian Screening MR Imaging With Motion Corrected T1, T2, and Advanced Diffusion Weighted Imaging for Patients With BRCA Mutation Who Undergo Screening Breast MRI", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Screening Breast MRI in Patients Who Are BRCA Mutation Carriers" ], "interventions": [ { "name": "MRI", "type": "DEVICE" }, { "name": "Optional Screening Questionnaire", "type": "BEHAVIORAL" } ], "intervention_types": [ "DEVICE", "BEHAVIORAL" ], "sponsor": "Memorial Sloan Kettering Cancer Center", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": "30 Years", "maximum_age": null, "sex": "FEMALE", "summary": "30 Years and older · Female only" }, "enrollment_count": 63, "start_date": "2015-06", "completion_date": "2027-06", "has_results": false, "last_update_posted_date": "2026-07-02", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 1, "location_summary": "New York, New York", "locations": [ { "city": "New York", "state": "New York" } ], "official_url": "https://clinicaltrials.gov/study/NCT02462460" }, { "nct_id": "NCT04544462", "title": "ANXA5 M2 Haplotyping in IVF Patients and Embryos", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Infertility", "Miscarriage, Recurrent", "Pregnancy Complications" ], "interventions": [ { "name": "M2 Test", "type": "OTHER" } ], "intervention_types": [ "OTHER" ], "sponsor": "Genomic Prediction Inc.", "sponsor_class": "INDUSTRY", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 500, "start_date": "2020-02-10", "completion_date": "2026-12", "has_results": false, "last_update_posted_date": "2025-08-26", "last_synced_at": "2026-09-07T23:15:40.544Z", "location_count": 1, "location_summary": "North Brunswick, New Jersey", "locations": [ { "city": "North Brunswick", "state": "New Jersey" } ], "official_url": "https://clinicaltrials.gov/study/NCT04544462" } ] }